A framework based on subject-specific musculoskeletal models and Monte Carlo simulations to personalize muscle coordination retraining.

Excessive loads at lower limb joints can lead to pain and degenerative diseases. Altering joint loads with muscle coordination retraining might help to treat or prevent clinical symptoms in a non-invasive way. Knowing how much muscle coordination retraining can reduce joint loads and which muscles have the biggest impact on joint loads is crucial for personalized gait retraining. We introduced a simulation framework to quantify the potential of muscle coordination retraining to reduce joint loads for an individuum. Furthermore, the proposed framework enables to pinpoint muscles, which alterations have the highest likelihood to reduce joint loads. Simulations were performed based on three-dimensional motion capture data of five healthy adolescents (femoral torsion 10°-29°, tibial torsion 19°-38°) and five patients with idiopathic torsional deformities at the femur and/or tibia (femoral torsion 18°-52°, tibial torsion 3°-50°). For each participant, a musculoskeletal model was modified to match the femoral and tibial geometry obtained from magnetic resonance images. Each participant's model and the corresponding motion capture data were used as input for a Monte Carlo analysis to investigate how different muscle coordination strategies influence joint loads. OpenSim was used to run 10,000 simulations for each participant. Root-mean-square of muscle forces and peak joint contact forces were compared between simulations. Depending on the participant, altering muscle coordination led to a maximum reduction in hip, knee, patellofemoral and ankle joint loads between 5 and 18%, 4% and 45%, 16% and 36%, and 2% and 6%, respectively. In some but not all participants reducing joint loads at one joint increased joint loads at other joints. The required alteration in muscle forces to achieve a reduction in joint loads showed a large variability between participants. The potential of muscle coordination retraining to reduce joint loads depends on the person's musculoskeletal geometry and gait pattern and therefore showed a large variability between participants, which highlights the usefulness and importance of the proposed framework to personalize gait retraining.

Health-related quality of life and fatigue in adult rare bone disease patients: A cross-sectional study from Austria.

OBJECTIVES: To assess physical and mental health domains of health related quality of life (HRQoL) as well as fatigue in rare bone disease (RBD) patients and to compare to patients with osteoporosis (OPO) and healthy controls (CTRL) without known bone diseases and to study associations of Fatique Severity Scale (FSS) with eight domains of HRQoL. METHODS: Monocentric, cross-sectional study carried out between 2020 and 2022 in a hospital affiliated with the Vienna Bone and Growth Center (European Reference Network Center for Rare Bone Disease) in Vienna, Austria. The study comprised three types of RBD: Osteogenesis imperfecta, Hypophosphatasia and X-linked Hypophosphatemia. Fatigue was assessed by FSS. The higher score indicates more fatigue severity. HRQoL was assessed by Short-Form Health Survey (SF-36 v2). Physical component (PCS) and mental component summary scores (MCS) were calculated and normalised to a general population. A higher score indicates better HRQoL. Age-adjusted ANCOVA was used to assess differences in PCS and MCS between groups. Spearman correlation was used for associations of FSS with eight domains of HRQoL. RESULTS: Study comprised 50 RBD patients [Mean age (SD) 48.8 (±15.9), 26 % male], 51 OPO patients [66.6 (±10.0), 9.8 % male] and 52 controls [50.8 (±16.3), 26.9 % male]. RBD patients had significantly higher mean age-adjusted FSS (3.5, 95 % CI 3.1-4.0) than controls (2.6, 95 % CI 2.2-3.0, p = 0.008), but not in comparison to osteoporotic patients 2.6 (95 % CI 2.2-3.0, p = 0.69). Diminished age-adjusted PCS of HRQoL was observed in RBD patients with a mean score of 37.1 (95 % CI 33.4-40.8), whereas their MCS of 50.1 (95 % CI 46.6-53.7) was comparable to controls (52.9, 95 % CI 49.8-56.0) and osteoporotic patients (50.2, 95 % CI 45.4-54.9). FSS score was negatively correlated with physical and mental component in RBD (ρ = -0.37, p < 0.05 and ρ = -0.54, p < 0.01, respectively) and OPO patients (ρ = -0.37, p < 0.05 and ρ = -0.35, p < 0.01, respectively). CONCLUSIONS: The HRQoL in adult patients with rare bone diseases is lower than compared to osteoporotic and control group in this Austrian population. Fatigue has significant negative impact on HRQoL and it is important to address it when meeting with RBD patients in clinical practice.

Influence of femoral anteversion angle and neck-shaft angle on muscle forces and joint loading during walking.

Femoral deformities, e.g. increased or decreased femoral anteversion (AVA) and neck-shaft angle (NSA), can lead to pathological gait patterns, altered joint loads, and degenerative joint diseases. The mechanism how femoral geometry influences muscle forces and joint load during walking is still not fully understood. The objective of our study was to investigate the influence of femoral AVA and NSA on muscle forces and joint loads during walking. We conducted a comprehensive musculoskeletal modelling study based on three-dimensional motion capture data of a healthy person with a typical gait pattern. We created 25 musculoskeletal models with a variety of NSA (93°-153°) and AVA (-12°-48°). For each model we calculated moment arms, muscle forces, muscle moments, co-contraction indices and joint loads using OpenSim. Multiple regression analyses were used to predict muscle activations, muscle moments, co-contraction indices, and joint contact forces based on the femoral geometry. We found a significant increase in co-contraction of hip and knee joint spanning muscles in models with increasing AVA and NSA, which led to a substantial increase in hip and knee joint contact forces. Decreased AVA and NSA had a minor impact on muscle and joint contact forces. Large AVA lead to increases in both knee and hip contact forces. Large NSA (153°) combined with large AVA (48°) led to increases in hip joint contact forces by five times body weight. Low NSA (108° and 93°) combined with large AVA (48°) led to two-fold increases in the second peak of the knee contact forces. Increased joint contact forces in models with increased AVA and NSA were linked to changes in hip muscle moment arms and compensatory increases in hip and knee muscle forces. Knowing the influence of femoral geometry on muscle forces and joint loads can help clinicians to improve treatment strategies in patients with femoral deformities.

The ankle in XLH: Reduced motion, power and quality of life.

Background: X-linked hypophosphatemia (OMIM 307800) is a rare bone disease caused by a phosphate-wasting condition with lifelong clinical consequences. Those affected suffer from bone pain, complex skeletal deformities, impaired mobility and a reduced quality of life. Early osteoarthritis and reduced range of motion of the lower limbs are known pathologies in XLH patients. However, XLH-specific data on the affected compartments such as the ankle joint through the evaluation of radiographic and gait analysis data is still lacking. Patients and methods: In this cross-sectional study, patients with genetically verified XLH, age ≥ 16 - 50 years and a complete record of gait analysis and or radiographic analysis data were included. Clinical examination, radiological and gait analysis data were compared to norms using the dataset of our gait laboratory registry. Radiographic analysis included tibial deformity analysis and assessment of osteoarthritis and enthesopathies. Western Ontario and McMaster Universities Arthritis Index (WOMAC), SF36v2, American Orthopedic Foot and Ankle Society score (AOFAS) and the Foot and Ankle Outcome Score (FAOS) were used. Twentythree participants with 46 limbs were eligible for the study. Results: A total of 23 patients (n=46 feet) met the inclusion criteria. Patients with XLH had significantly reduced gait quality, ankle power and plantar flexion (p < 0.001) compared to a historic gait laboratory control group. Ankle valgus deformity was detected in 22 % and ankle varus deformity in 30 % of the patients. The subtalar joint (59.1%) as well as the anterior tibiotalar joint (31.1%) were the main localizations of moderate to severe joint space narrowing. Ankle power was decreased in moderate and severe subtalar joint space narrowing (p < 0.05) compared to normal subtalar joint space narrowing. No lateral or medial ligament instability of the ankle joint was found in clinical examination. Tibial procurvatum deformity led to lower ankle power (p < 0.05). Conclusions: This study showed structural and functional changes of the ankle in patients with XLH. Subtalar ankle osteoarthritis, patient reported outcome scores and clinical ankle restriction resulted in lower gait quality and ankle power.

Correction of post-traumatic lower-limb discrepancy with Precice intramedullary lengthening nails: a review of 34 adults with an average follow-up of 2 years.

BACKGROUND AND PURPOSE: We report results and complications of gradual bone lengthening for post-traumatic lower-limb length discrepancy (LLD) with Precice intramedullary lengthening nails in 34 adults. PATIENTS AND METHODS: Inclusion criteria were lower-limb lengthening using the Precice nail, posttraumatic etiology, age older than 18 years, and minimum follow-up of 12 months after implantation. 34 patients met the inclusion criteria. Radiological and clinical outcome data were collected. RESULTS: Precice lengthening was performed in the femur in 28 patients (21 antegrade, 7 retrograde) and in the tibia in 6. Mean patient age at time of surgery was 32 years (18-72). Mean preoperative LLD was 31 mm (20-71). Acute correction of axial or rotational malalignment was performed in 11 segments. At final follow-up (mean 2 years [1.1-3.6]), 33 of 34 nails had been removed. All lengthening sites were healed, and all patients mobilized with full weight-bearing. 14 adverse events occurred in 11 patients and were categorized as problems (n = 5), obstacles (n = 3), and complications (n = 6). Unplanned surgery was necessary in 7 patients, 3 of whom did not complete treatment with Precice. INTERPRETATION: Correction of posttraumatic LLD with or without axial malalignment using Precice intramedullary lengthening nails is associated with a low number of complications and good functional outcome. However, one-fifth of patients in this series needed further unplanned surgery for revision of obstacles or complications.

[Osteogenesis imperfecta : A multidisciplinary challenge]. / Osteogenesis imperfecta : Eine multidisziplinäre Herausforderung.

Osteogenesis imperfecta (OI) describes a group of rare diseases which are associated with an increased tendency to bone fractures. In addition to the main symptom of fractures, OI is characterized by a variety of pediatric, pediatric orthopedic and anesthesiological challenges. The multidisciplinary expertise is mostly concentrated at specialized centers. The current treatment concepts aim at minimizing the fracture rate, prevention and treatment of deformities, pain reduction and improved mobility. In addition to pharmacotherapy, conservative and surgical measures are also applied. Scheduled interventions on the extremities are one of the most commonly performed operations in children with OI. Various intramedullary nailing techniques are available. This article addresses the important aspects of multidisciplinary care of children with OI concerning the treatment of the lower extremities.

Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study.

Background: Gait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis. While the pathomechanism for rickets is well understood, the direct role of PHEX (Phosphate-regulating neutral endopeptidase) deficiency in non-rachitic features including complex deformities, skull and dental affections remains unclear. FGF23-inhibiting antibody treatment can normalize serum phosphate levels and to improve rickets in XLH patients. However, linear growth remains impaired and effects on lower limb deformity and gait are insufficiently studied. Aims: To characterize and evaluate the course of lower limb deformity in a case series of pediatric XLH patients receiving Burosumab therapy. Methods: Comparative assessment of planar radiographs, gait analysis, biochemical and clinical features of pediatric patients before and ≥12 months after initiation of FGF23-inhibiting was performed prospectively. Lower limb maltorsion was quantified by torsional MRI and gait analysis. Standardized deformity analysis of lower limb anteroposterior radiographs was conducted. Results: Seven patients (age 9.0 +/-3.6 years) were eligible for this study. All patients received conventional treatment before onset of antibody treatment. Maltorsion of the femur was observed in 8/14 legs using torsional MRI (mean antetorsion 8.79°). Maltorsion of the tibia was observed in 9/14 legs (mean external torsion 2.8°). Gait analysis confirmed MRI findings with femoral external malrotation prior to and one year after onset of Burosumab therapy. Internal foot progression (intoeing gait) remained pathological in all cases (mean 2.2°). Knee rotation was pathologically internal 10/14 legs. Mean mechanical axis deviation (MAD) of 16.1mm prior to Burosumab changed in average by 3.9mm. Three children underwent guided growth procedures within the observation period. Mild postprocedural rebound of frontal axis deviation was observed under Burosumab treatment in one patient. Conclusions: This is the first study to investigate lower limb deformity parameters quantitatively in children with XLH receiving Burosumab. One year of Burosumab therapy was associated with persistent maltorsion and frontal axis deviation (varus/valgus) despite improved rickets in this small, prospective uncontrolled study.

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.

X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). In addition to rickets and osteomalacia, patients with XLH have a heavy disease burden with enthesopathies, osteoarthritis, pseudofractures and dental complications, all of which contribute to reduced quality of life. This Consensus Statement presents the outcomes of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, and provides robust clinical evidence on management in XLH, with an emphasis on patients' experiences and needs. During growth, conventional treatment with phosphate supplements and active vitamin D metabolites (such as calcitriol) improves growth, ameliorates leg deformities and dental manifestations, and reduces pain. The continuation of conventional treatment in symptom-free adults is still debated. A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. Given the diversity of symptoms and complications, an interdisciplinary approach to management is of paramount importance. The focus of treatment should be not only on the physical manifestations and challenges associated with XLH and other FGF23-mediated hypophosphataemia syndromes, but also on the major psychological and social impact of the disease.

Limb Lengthening With Precice Intramedullary Lengthening Nails in Children and Adolescents.

BACKGROUND: The Precice intramedullary bone lengthening nail has been used in our department since 2013. We sought to determine the efficacy and safety of intramedullary limb lengthening with Precice nails in children and adolescents. METHODS: We retrospectively investigated patients 18 years and younger who underwent lower-limb lengthening using the Precice nail. Radiologic and clinical outcome data were obtained from a prospective database. The minimum postimplantation follow-up was 12 months. Between March 2013 and March 2020, 161 patients underwent limb lengthening with a Precice nail; 76 patients met the inclusion criteria. RESULTS: We used 84 nails in 76 patients (68 femurs and 16 tibias). Femoral nails were inserted using an antegrade approach in 57 patients and a retrograde approach in 11. The mean age at surgery was 16 years (range, 9 to 18 y). The mean lengthening was 33 mm (range, 14 to 80 mm) with additional acute axial or rotational malalignment correction in 16 segments. At the last follow-up (mean=2.1, years; range, 1 to 5 y), all regenerates had healed and all patients were mobile with full weight-bearing. Complications that necessitated surgical revision occurred in 6 patients (8%), and the desired lengthening was not achieved in 2 patients. Postlengthening malalignment occurred in 4 patients (5 tibial nails). The weight-bearing index, defined as days from surgery to full weight-bearing/cm of lengthening, was a mean of 45 days (range, 7 to 127 d/cm). CONCLUSIONS: The Precice nail facilitated reliable and safe bone lengthening and was associated with a low complication rate. Correction of additional malalignment was possible by applying intraoperative acute correction or guided growth. LEVEL OF EVIDENCE: Level IV-therapeutic study investigating the results of treatment.

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in FAM149B1-ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the FAM149B1-related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of FAM149B1-related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia.

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH. Design: Data on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults. Patients and Controls: Radiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76). Results: Patients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI. Conclusions: This study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.

Proteus syndrome is a rare genetic disorder, which is characterized by progressive, segmental, or patchy overgrowth of diverse tissues of all germ layers, including the skeleton. Here, we present a 9-year-old girl with a somatic-activating mutation (c.49G > A; p.Glu17Lys) in AKT1 gene in a mosaic status typical for Proteus syndrome. She presented with hemihypertrophy of the right lower limb and a "moccasin" lesion among others. A transiliac bone biopsy was analyzed for bone histology/histomorphometry as well as bone mineralization density distribution (BMDD) and osteocyte lacunae sections (OLS) characteristics based on quantitative backscattered electron imaging. Bone histomorphometry revealed highly increased mineralizing surface (Z-score + 2.3) and mineral apposition rate (Z-score + 19.3), no osteoclasts (Z-score - 2.1), and an increased amount of primary bone in the external cortex. BMDD abnormalities included a decreased mode calcium concentration in cancellous bone (Z-score - 1.7) and an increased percentage of highly mineralized cortical bone area (Z-score + 2.4) compared to reference. OLS characteristics showed several differences compared to reference data; among them, there were the highly increased OLS-porosity, OLS-area, and OLS-perimeter on the external cortex (Z-scores + 6.8, + 4.4 and 5.4, respectively). Our findings suggest that increased bone formation reduced matrix mineralization in cancellous bone while the enhanced amount of primary bone in the external cortex increased the portion of highly mineralized cortical bone and caused OLS-characteristics abnormalities. Our results indicate further that remodeling of primary bone might be disturbed or delayed in agreement with the decreased number of osteoclasts observed in this child with Proteus syndrome.

Leg lengthening and deformity correction in rare bone diseases: a multidisciplinary approach.

Congenital and acquired conditions presenting with leg length discrepancy, leg deformity or short stature are not only a challenge for paediatric orthopaedic surgeons in terms of treatment options but may also involve a number of medical specialties due to the complex clinical manifestations of the diseases. Various surgical treatment options are available for these rare genetic diseases, including bone lengthening and growth inhibition techniques for lower limb discrepancy, as well as guided growth and other surgical procedures for correction of angular deformities. Surgical techniques may be similar, but the treatment plans and specific multidisciplinary approaches may differ. The present report is focused on paediatric orthopaedic and multidisciplinary aspects of the treatment of rare bone diseases. We address the clinical presentation of these diseases, gait and surgical procedures for conditions such as achondroplasia, X­linked hypophosphatemia and osteogenesis imperfecta. We also provide a short overview of other rare bone diseases.

Disease-specific gait deviations in pediatric patients with X-linked hypophosphatemia.

BACKGROUND: X-linked hypophosphatemia (XLH) represents the most common genetic form of rickets featuring profound hypophosphatemia with associated skeletal and non-skeletal manifestations. Early onset gait disturbances contribute strongly to the burden of disease. However, no study has comprehensively characterized naturally occurring gait deviations in pediatric patients with XLH. RESEARCH QUESTIONS: Can disease-specific gait deviations and potentially influencing factors be identified by gait analysis in non-surgically treated children with XLH? METHODS: Gait laboratory assessments of 12 pediatric patients with XLH without previous long bone surgery was retrospectively analyzed and compared to age-matched healthy controls. Radiologic and clinical parameters of XLH patients were correlated with kinematic gait variables and gait scores. RESULTS: Reduced external knee rotation and increased external hip orientation was ubiquitous in children with XLH. Increased lateral trunk lean, or "waddling gait", occurred in five children and was associated with varus knee deformities. Overall, children with XLH showed a reduced Gait Deviation Index (GDI) compared to controls. Radiologic and gait analysis revealed complex combined frontal and torsional deformity of the lower limbs as a common feature in XLH. Higher Body Mass Index (BMI) was associated with both lateral trunk lean and impaired GDI. SIGNIFICANCE: Gait analysis is feasible to quantify gait deviations and lower limb deformities in pediatric patients with XLH. Specific gait characteristics including internal knee rotation and external hip rotation are common among patients with XLH and contribute to impaired gait scores. Our data suggest the use of gait and deformity data assessment as outcome parameters in future observational and interventional studies. Standardized assessment might contribute to targeted treatments to improve life quality in XLH patients.

Normalization of Forefoot Supination After Tibialis Anterior Tendon Transfer for Dynamic Clubfoot Recurrence.

BACKGROUND: We aimed to evaluate the effect of tibialis anterior tendon transfer (TATT) on foot motion in children with clubfoot recurrence after initial Ponseti treatment. METHODS: Children with dynamic clubfoot recurrence after initial Ponseti treatment who underwent TATT between 2014 and 2017 were considered for inclusion. Exclusion criteria were neurological disease, split transfer of the tendon, additional bone or joint invasive surgery, and initial treatment abroad. Of 94 children (143 TATT), 36 met the inclusion criteria. Seventeen (47%) of the 36 children with 25 clubfeet and a mean age at the time of surgery of 6.8 years participated in the study. Gait analysis, including the Oxford foot model, was conducted preoperatively and postoperatively. Furthermore, kinematic and kinetic data were compared with those of age-matched healthy children (n=18). RESULTS: Forefoot supination in relation to the hindfoot and tibia was reduced during swing and at initial contact after TATT compared with preoperative values. Forefoot supination in relation to the tibia at initial contact decreased from 12.4 to 5.2 degrees after TATT (control group, 6.0 degrees). The heel showed less dynamic varus and adduction movement after TATT compared with preoperatively. Maximum ankle power was reduced preoperatively and postoperatively compared with controls. Maximum ankle dorsiflexion slightly increased after TATT. CONCLUSIONS: Gait analysis showed normalization of the main components of dynamic clubfoot recurrence after TATT. This joint-sparing surgery efficiently corrects recurrent dynamic deformity. LEVEL OF EVIDENCE: Level II-therapeutic.

Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.

X­linked hypophosphatemic rickets (XLH, OMIM #307800) is a rare genetic metabolic disorder caused by dysregulation of fibroblast-like growth factor 23 (FGF23) leading to profound reduction in renal phosphate reabsorption. Impaired growth, severe rickets and complex skeletal deformities are direct consequences of hypophosphatemia representing major symptoms of XLH during childhood. In adults, secondary complications including early development of osteoarthritis substantially impair quality of life and cause significant clinical burden. With the global approval of the monoclonal FGF23 antibody burosumab, a targeted treatment with promising results in phase III studies is available for children with XLH. Nevertheless, complete phenotypic rescue is rarely achieved and remaining multisystemic symptoms demand multidisciplinary specialist care. Coordination of patient management within the major medical disciplines is a mainstay to optimize treatment and reduce disease burden. This review aims to depict different perspectives in XLH patient care in the setting of a multidisciplinary centre of expertise for rare bone diseases.

The unstable knee in congenital limb deficiency.

PURPOSE: Instability of the knee is a common finding in patients with congenital limb deficiency. The instability can be attributed to soft tissue abnormalities, frontal, sagittal or rotational deformity of the lower limb and bony dysplasia of the patella or of the femoral condyles. In most of the cases, these pathomorphologic changes stay asymptomatic in daily activity. However, instability can appear during deformity correction and bone-lengthening procedures, leading to flexion contracture or subluxation of the knee. METHODS: A review of pediatric orthopaedic literature on different factors of knee instability, state-of-the-art treatment options in congenital limb deficiency and in cases of lengthening-related knee subluxation is presented and the authors' preferred treatment methods are described. RESULTS: Leg lengthening and deformity correction in patients with congenital limb deficiencies can be achieved with various techniques, such as guided growth, monolateral or circular external fixation and intramedullary lengthening nails. Radiographic assessment and clinical examination of the knee stability are obligatory to estimate the grade of instability prior to surgical procedures. Preparatory surgery, as well as preventive measures such as bracing, bridging of the knee and intensive physical therapy, can help to avoid subluxation during lengthening in unstable knees. CONCLUSIONS: Adequate surgical techniques, preventive measures and early detection of signs of subluxation can lead to good functional results in patients with congenital limb deficiency.

Treatment of Severe Recurrent Clubfoot.

Understanding the pathoanatomy of severe recurrent clubfoot and its implication on treatment options is important for the successful treatment. A comprehensive clinical evaluation of the different components helps in selecting procedures. Individual needs and social and psychological factors influencing treatment and the impact of treatment on the child have to be considered. With increasing dissemination and improved understanding of the Ponseti method, a further decrease in the frequency of severe recurrent clubfoot can be hoped for and expected.

Results of gait analysis including the Oxford foot model in children with clubfoot treated with the Ponseti method.

BACKGROUND: The aim of the study was to evaluate how clubfeet treated with the Ponseti method compare with control feet in gait analysis and whether additional information can be provided by the Oxford foot model. METHODS: All patients with a minimum age of three years in our prospective database of clubfeet treated with the Ponseti method were considered for inclusion. Exclusion criteria were an associated syndrome or neurological disease, positional (slight) clubfoot, and presentation at an age of more than three months. Of the 125 patients with 199 clubfeet who satisfied the criteria, thirty-six (29%) agreed to participate in the study. Four of these were excluded because of insufficient gait analysis data, leaving thirty-two patients with fifty clubfeet for evaluation. Clinical examination and three-dimensional gait analysis including the Oxford foot model were performed, and a disease-specific questionnaire was administered. Kinetic and kinematic results were compared with those of an age-matched control group (n = 15). RESULTS: The mean score on the disease-specific questionnaire was 83.5. Gait analysis showed significantly decreased range of motion, plantar flexion, and power of the ankle compared with controls. The mean external foot progression angle of 5.7° in the Ponseti group was slightly less than that in the controls. Slight intoeing occurred in 24%, and 12% did not achieve a neutral position during swing phase. Slight compensation was observed, including external rotation of the hip in 28%. The Oxford foot model revealed differences in foot motion between the groups. CONCLUSIONS: Clubfoot treatment with the Ponseti method yielded good clinical results with high functional scores. Three-dimensional gait analysis demonstrated distinctive but slight deviations. Intoeing was less frequent and less severe compared with groups in the literature. We recommend the use of three-dimensional gait analysis, including a foot model, as an objective tool for evaluation of the results of clubfoot treatment. LEVEL OF EVIDENCE: Therapeutic Level II. See Instructions for Authors for a complete description of levels of evidence.

Midterm results of the Ponseti method in the treatment of congenital clubfoot.

PURPOSE: The Ponseti method has become the gold standard for clubfoot treatment. Although promising short-term results have been published, only a few studies report results at the end of the bracing period. We aimed to evaluate the functional midterm results, rate of recurrence and need for subsequent surgery. METHODS: Patients from our prospective database of clubfeet treated with the Ponseti method with a minimum age of three years were identified. Exclusion criteria were syndrome or neurogenic association, address in a foreign country, presentation after six weeks of age, more than three casts applied elsewhere and correction with less than three casts. A total of 125 patients met the inclusion criteria. The Pediatric Outcomes Data Collection Instrument (PODCI), the disease-specific instrument (DSI) questionnaire and an invitation for a clinical examination were sent out. For patients not presenting for evaluation, data from the last follow-up were extracted. RESULTS: Seventy questionnaires (56 %) of patients with a mean age of 5.7 years (3.3-8.9 years) were returned. The DSI score (n = 65) was 85.3 (± 13.01 SD) and the PODCI score (n = 59) was 95.5 (± 6.3 SD). A total of 113 of 125 patients (90.4 %) with 182 clubfeet were examined in the study or seen in follow-up. During a mean follow-up of 5.2 years (range 3-8.5 years) a repeat tenotomy was performed in 4 % of cases, a percutaneous Achilles tendon lengthening in 3 %, a tibialis anterior tendon transfer in 13 % and open joint surgery in 5 %. The mean dorsiflexion with knee extended was 15.9° (range 0-32°; SD ± 5.5) with 16 feet (9 %) presenting less than 10°. CONCLUSIONS: The functional scores indicate that the Ponseti method results in mostly pain-free feet not limiting age-appropriate activity. In this consecutive case series open joint surgery could be avoided in 95 % of cases with a good functional and anatomic outcome.